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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 8 messages/3 Pt Req  
   

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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG: 8 messages/3 Pt Req
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Thu, 6 Aug 1998 14:20:02 +0200
Posted-Date: Thu, 06 Aug 1998 14:20:02 +0200

*****************************************************************
           HUM-MOLGEN  DIAGnostics/Clinical Research
*****************************************************************


This DIAG message contains  5 professional requests and 3 patient requests:

1)      McCune-Albright syndrome
2)      Isolated hemihypertrophy - PATIENT REQUEST
3)      Trisomy 9 support group - PATIENT REQUEST
4)      CFTR testing
5)      Campomelic dysplasia
6)      Late onset cerebellar ataxia
7)      Kartagener Syndrome and Situs inversus totalis - PATIENT REQUEST
8)      Coarctation in a 47XXY

REPLIES TO PROFESSIONAL REQUESTS SHOULD BE SENT TO THE PERSON MAKING THE
REQUEST AND NOT TO HUM-MOLGEN.


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section
*****************************************************************************
*****************************************************************************

1)  McCune-Albright syndrome

I am interested to know if anyone has experience of pregnancy in ladies
affected by McCune-Albright syndrome.

A lady affected by this disorder is now pregnant and asked for recurrence risk
and prenatal diagnosis; no mutation analysis has been performed till now in
her.
 Any suggestion helpful to be added to the routine genetic counselling will be
welcome.

Cesare Danesino
Prof. of Medical Genetics
University of Pavia
Italy

          Prof. Cesare Danesino, MD
          Dip. Patologia Umana ed Ereditaria, Universita di Pavia
          Via Forlanini 14, 27100 Pavia, Italy
          Phone (+39) 382 507 519       Fax (+39) 382 525 030

E-mail cidi@ipv36.unipv.it

**********

2)      Isolated hemihypertrophy
Apparent patient location: USA
PATIENT REQUEST - PLEASE RESPOND DIRECTLY TO HUM-MOLGEN

I have mild isolated hemihypertrophy (without any other disease associations),
and am interested in knowing the relative risk of transmitting Beckwith
Wiedemann syndrome, Proteus syndrome, Wilm's tumor, etc. on to my offspring.
Any statistics?
Thank you.


**********

3)      Trisomy 9 support group
Apparent patient location: USA
PATIENT REQUEST - PLEASE RESPOND DIRECTLY TO HUM-MOLGEN

I am a Grandmother with two grandchildren who have Chromosome 9 abnormalities
and I am support group leader for our Trisomy 9 support group.  Our group name
is 9 TIPS, or Trisomy 9 International Parent Support. We are looking for
Trisomy 9 families or medical abstracts with following cytogenetic diagnosis:
46xyder(9t(9;15)(q21.2;q26.3)der(15)t(9;15)(q22.1;26.3). This family
has not been able to find this type of Trisomy 9 in years of searching.

**********

4)      CFTR testing

Is there anybody interested in screening for mutations in the CFTR gene in
a female teenager with chronic pulmonary problems, borderline sweat tests,
but no evidence fro pancreas insufficiency.  If so please contact me
directly.

Jon J. Jonsson, M.D., Ph.D.
Docent and Director
Department of Clinical Biochemistry
Landspitalinn - National University Hospital of Iceland

Tel.: 354-560-1840
FAX:  354-560-1810
email: jonjj@rsp.is

**********

5)      Campomelic dysplasia

We had a patient in which we made the prenatal diagnosis, by ultrasound
criteria, of campomelic dysplasia. The chromosomes were normal. We are
trying to find someone working with SOX 9 gene that would be interested in
checking the DNA of this fetus for mutations of campomelic dysplasia.

Thank you

Jose Ferreira, M.D.
zec@inx.net
Genetics Fellow, Montefiore Medical Center (AECOM), New York


**********

6)      Late onset cerebellar ataxia

I have a client that has been diagnosed with late onset cerebellar ataxia.
Since I am a social worker and not a physician, I am looking for a way to
explain this in laymens terms. I am also interested in the latest occupational
and physical therapies available to enhance the "best quality of life" for
this
client. Any and all information I could receive would be most appreciated.
Thank you.

"Bille S. Draper, BSW" <trolls50@hotmail.com>


**********

7)      Kartagener Syndrome and Situs inversus totalis
Apparent patient location: USA
PATIENT REQUEST - PLEASE RESPOND DIRECTLY TO HUM-MOLGEN

My name is Vicente de Paula Junior. I am 24 years old. I'm have Kartagener
Syndrome and Situs inversus totalis. I would like to know about any reaserch
about my desease in which I can participate.

 I'm asking for  medical help.

**********

8)      Coarctation in a 47XXY

We recently saw a 6 year old phenotypically male child with penoscrotal
translocation, unilateral cryptorchidism, coarcation of the aorta requiring
surgery in early neonatal period, and true shortening of the left tibia. He is
hyperactive. His karyotype was 47XXY. Has anyone ever seen coarctation in a
47XXY?

How about true shortening of the lower limb?

Please reply directly to my email address.

Thanks very much

paetaya@nus.edu.sg
(Agnes Tay/Dept of Pediatrics, National University of Singapore)
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